A novel fusion gene identified in metastatic melanoma associated with malignant transformation of a giant congenital melanocytic naevus
GCMN is a major risk factor for melanoma in children, which occurs sporadically, but familial cases are rarely reported. Whole-genome sequencing results revealed the presence of a G3BP1–BRAF fusion in tumour tissue in our case. We hope that this case provides some reference for the diagnosis, prognosis and individualized treatment of newborn patients with GCMN.
Authors
- Xiaodong Chen (ORCID: https://orcid.org/0000-0003-3901-3434)
- Shengju Yang (ORCID: https://orcid.org/0000-0003-0569-8252)
- Min Gao (ORCID: https://orcid.org/0000-0001-5284-4828)
- Yixiao Wang (ORCID: https://orcid.org/0000-0003-2664-3605)
- Siqi Liu (ORCID: https://orcid.org/0009-0002-0765-582X)
- Xiaomei Cui
- Qing Zhang
Institutions
- Anhui University (CN)
- Anhui Medical University (CN)
- Nantong University (CN)
- Affiliated Hospital of Nantong University (CN)
- First Affiliated Hospital of Anhui Medical University (CN)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2026-01-14
- DOI
- https://doi.org/10.1093/bjd/ljag015
- Primary Topic
- Cutaneous Melanoma Detection and Management
- Type
- article
- Field-Weighted Citation Impact
- 0.00